Incidental Mutation 'R5713:Casp3'
| ID |
450995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp3
|
| Ensembl Gene |
ENSMUSG00000031628 |
| Gene Name |
caspase 3 |
| Synonyms |
AC-3, Apopain, Caspase-3, CPP32, Yama, A830040C14Rik, CC3, mldy |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47070326-47092724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 47089349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 199
(T199K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093517]
[ENSMUST00000210534]
[ENSMUST00000211115]
|
| AlphaFold |
P70677 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093517
AA Change: T199K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628
AA Change: T199K
| Domain | Start | End | E-Value | Type |
|---|
|
CASc
|
36 |
277 |
9.95e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210534
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211115
AA Change: T199K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9569 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to a highly conserved family of cysteinyl aspartate-specific proteases that function as essential regulators of programmed cell death through apoptosis. Members of this family contain an N-terminal pro-domain and require cleavage at specific aspartate residues to become mature. The protein encoded by this gene belongs to a subgroup of cysteinyl aspartate-specific proteases that are activated by initiator caspases and that perform the proteolytic cleavage of apoptotic target proteins. Mice defective for this gene exhibit a variety of phenotypes including reduced neuronal apoptosis resulting in hyperplasias, hearing loss, attenuated osteogenic differentiation of bone marrow stromal stem cells, and pre- and post-natal lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Casp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Casp3
|
APN |
8 |
47,082,776 (GRCm39) |
utr 5 prime |
probably benign |
|
|
warner
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Casp3
|
UTSW |
8 |
47,089,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1541:Casp3
|
UTSW |
8 |
47,087,369 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:Casp3
|
UTSW |
8 |
47,091,109 (GRCm39) |
missense |
probably benign |
|
|
R2046:Casp3
|
UTSW |
8 |
47,082,761 (GRCm39) |
splice site |
probably benign |
|
|
R2159:Casp3
|
UTSW |
8 |
47,087,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Casp3
|
UTSW |
8 |
47,082,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2252:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2253:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4095:Casp3
|
UTSW |
8 |
47,087,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Casp3
|
UTSW |
8 |
47,087,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6847:Casp3
|
UTSW |
8 |
47,089,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6957:Casp3
|
UTSW |
8 |
47,087,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Casp3
|
UTSW |
8 |
47,088,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7608:Casp3
|
UTSW |
8 |
47,087,368 (GRCm39) |
missense |
probably benign |
|
|
R7682:Casp3
|
UTSW |
8 |
47,085,420 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACCACACTTAGAGTTTTCAGA -3'
(R):5'- GGTTTACACCCACAAACAACTG -3'
Sequencing Primer
(F):5'- AGAGTTTTCAGATGTAAACTGTGTG -3'
(R):5'- TGGAGATGTAAGCCTACACCTGTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation